A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria

Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We rep...

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Bibliographic Details
Published inNetherlands journal of medicine Vol. 74; no. 10; pp. 455 - 457
Main Authors Adema, A Y, Janssen, M C H, van der Heijden, J W
Format Journal Article
LanguageEnglish
Published Netherlands 01.12.2016
Subjects
Adult
Deafness - complications
Deafness - diagnosis
Deafness - genetics
Deafness - pathology
Diabetes Mellitus, Type 2 - complications
Diabetes Mellitus, Type 2 - diagnosis
Diabetes Mellitus, Type 2 - genetics
Diabetes Mellitus, Type 2 - pathology
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Female
Glomerulosclerosis, Focal Segmental - etiology
Glomerulosclerosis, Focal Segmental - pathology
Humans
Metabolic Syndrome - etiology
Microscopy, Electron
Mitochondria - ultrastructure
Mitochondrial Diseases - complications
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - genetics
Mitochondrial Diseases - pathology
Mutation
Point Mutation
Proteinuria - etiology
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Summary:Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and fatigue. The diagnosis of mitochondrial disease was made in this patient, which resulted from a novel 09155A>G mutation in the mtDNA. As far as we know, this mutation has never been described before as causing MIDD.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1872-9061